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dbVar

Database of genomic structural variation

nsv7096595

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:177,501

Description:
See descriptions for individual calls in download files

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: 435 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):190,970,703-191,148,203

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096595	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	190,970,703	191,148,203
nsv7096595	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	191,835,429	192,012,929

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788279	deletion	Multiple	Multiple	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; IMMUNODEFICIENCY 31A; IMD31A; IMMUNODEFICIENCY 31B; IMD31B; IMMUNODEFICIENCY 31C; IMD31C; Immunodeficiency 31C; Immunodeficiency 31a; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Mycobacterial and viral infections, susceptibility to, autosomal recessive	Pathogenic	ClinVar	RCV003107718.2, VCV002424633.2
nssv18789574	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003113215.2, VCV002424633.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788279	Remapped	Perfect	NC_000002.12:g.(?_ 190970703)_(191148 203_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	190,970,703	191,148,203
nssv18789574	Remapped	Perfect	NC_000002.12:g.(?_ 190970703)_(191148 203_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	190,970,703	191,148,203
nssv18788279	Submitted genomic		NC_000002.11:g.(?_ 191835429)_(192012 929_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	191,835,429	192,012,929
nssv18789574	Submitted genomic		NC_000002.11:g.(?_ 191835429)_(192012 929_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	191,835,429	192,012,929

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
nssv18788279	GRCh37: NC_000002.11:g.(?_191835429)_(192012929_?)del	deletion	germline	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; IMMUNODEFICIENCY 31A; IMD31A; IMMUNODEFICIENCY 31B; IMD31B; IMMUNODEFICIENCY 31C; IMD31C; Immunodeficiency 31C; Immunodeficiency 31a; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Mycobacterial and viral infections, susceptibility to, autosomal recessive	Pathogenic	ClinVar	RCV003107718.2, VCV002424633.2
nssv18789574	GRCh37: NC_000002.11:g.(?_191835429)_(192012929_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003113215.2, VCV002424633.2

No genotype data were submitted for this variant

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