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dbVar

Database of genomic structural variation

nsv7098070

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,621,289

Description:
See descriptions for individual calls in download files
Publication(s):Gertler et al. 2018, Kurahashi et al. 2002, Lehman et al. 2016, Parisi et al. 2003, Valente et al. 2011

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 12570 SVs from 119 studies. See in: genome view

Remapped(Score: Good):135,500,711-138,121,999

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098070	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	135,500,711	138,121,999
nsv7098070	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	138,392,557	141,016,451

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786854	deletion	Multiple	Multiple	ADAMS-OLIVER SYNDROME 5; AOS5; Adams-Oliver Syndrome; Adams-Oliver syndrome; Adams-Oliver syndrome 5	Pathogenic	ClinVar	RCV003119767.2, VCV002426327.6
nssv18786855	deletion	Multiple	Multiple	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome	Pathogenic	ClinVar	RCV003119768.1, VCV002426327.6
nssv18788724	deletion	Multiple	Multiple	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy; EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14; Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5; KCNT1-Related Epilepsy; Malignant migrating partial seizures of infancy; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003109684.2, VCV002426327.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786854	Remapped	Good	NC_000009.12:g.(?_ 135500711)_(138121 999_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	135,500,711	138,121,999
nssv18786855	Remapped	Good	NC_000009.12:g.(?_ 135500711)_(138121 999_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	135,500,711	138,121,999
nssv18788724	Remapped	Good	NC_000009.12:g.(?_ 135500711)_(138121 999_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	135,500,711	138,121,999
nssv18786854	Submitted genomic		NC_000009.11:g.(?_ 138392557)_(141016 451_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	138,392,557	141,016,451
nssv18786855	Submitted genomic		NC_000009.11:g.(?_ 138392557)_(141016 451_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	138,392,557	141,016,451
nssv18788724	Submitted genomic		NC_000009.11:g.(?_ 138392557)_(141016 451_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	138,392,557	141,016,451

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786854	GRCh37: NC_000009.11:g.(?_138392557)_(141016451_?)del	deletion	germline	ADAMS-OLIVER SYNDROME 5; AOS5; Adams-Oliver Syndrome; Adams-Oliver syndrome; Adams-Oliver syndrome 5	Pathogenic	ClinVar	RCV003119767.2, VCV002426327.6
nssv18786855	GRCh37: NC_000009.11:g.(?_138392557)_(141016451_?)del	deletion	germline	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome	Pathogenic	ClinVar	RCV003119768.1, VCV002426327.6
nssv18788724	GRCh37: NC_000009.11:g.(?_138392557)_(141016451_?)del	deletion	germline	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy; EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14; Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5; KCNT1-Related Epilepsy; Malignant migrating partial seizures of infancy; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003109684.2, VCV002426327.6

No genotype data were submitted for this variant

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