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dbVar

Database of genomic structural variation

nsv6313138

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:1,186,856

Description:
See descriptions for individual calls in download files
Publication(s):Zhang et al. 2004

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: 2226 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):123,184,536-124,371,391

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6313138	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	123,184,536	124,371,391
nsv6313138	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	122,318,388	123,505,241

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971960	deletion	Multiple	Multiple	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2; Lymphoproliferative Disease, X-Linked; Lymphoproliferative syndrome 2, X-linked; Server error < EMBL-EBI; X-linked lymphoproliferative disease	Pathogenic	ClinVar	RCV001963016.5, VCV001455382.5
nssv18788405	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003107920.2, VCV001455382.5
nssv18791455	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003105349.2, VCV002423412.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971960	Remapped	Perfect	NC_000023.11:g.(?_ 123184536)_(124371 391_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	123,184,536	124,371,391
nssv18788405	Remapped	Perfect	NC_000023.11:g.(?_ 123184536)_(124371 391_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	123,184,536	124,371,391
nssv18791455	Remapped	Perfect	NC_000023.11:g.(?_ 123184536)_(124371 391_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	123,184,536	124,371,391
nssv17971960	Submitted genomic		NC_000023.10:g.(?_ 122318388)_(123505 241_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	122,318,388	123,505,241
nssv18788405	Submitted genomic		NC_000023.10:g.(?_ 122318388)_(123505 241_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	122,318,388	123,505,241
nssv18791455	Submitted genomic		NC_000023.10:g.(?_ 122318388)_(123505 241_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	122,318,388	123,505,241

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
nssv17971960	GRCh37: NC_000023.10:g.(?_122318388)_(123505241_?)del	deletion	germline	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2; Lymphoproliferative Disease, X-Linked; Lymphoproliferative syndrome 2, X-linked; Server error < EMBL-EBI; X-linked lymphoproliferative disease	Pathogenic	ClinVar	RCV001963016.5, VCV001455382.5
nssv18788405	GRCh37: NC_000023.10:g.(?_122318388)_(123505241_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003107920.2, VCV001455382.5
nssv18791455	GRCh37: NC_000023.10:g.(?_122318388)_(123505241_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003105349.2, VCV002423412.2

No genotype data were submitted for this variant

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