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dbVar

Database of genomic structural variation

nsv4683496

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:92,824

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: 253 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):203,866,796-203,959,619

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683496	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	203,866,796	203,959,619
nsv4683496	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	204,731,519	204,824,342

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213051	deletion	Multiple	Multiple	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; Autoimmune lymphoproliferative syndrome type V; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001031085.1, VCV000830454.2
nssv17172544	deletion	Multiple	Multiple	Common variable immunodeficiency; Common variable immunodeficiency 1; IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1	Pathogenic	ClinVar	RCV001381471.1, VCV000830454.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213051	Remapped	Perfect	NC_000002.12:g.(?_ 203866796)_(203959 619_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	203,866,796	203,959,619
nssv17172544	Remapped	Perfect	NC_000002.12:g.(?_ 203866796)_(203959 619_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	203,866,796	203,959,619
nssv16213051	Submitted genomic		NC_000002.11:g.(?_ 204731519)_(204824 342_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	204,731,519	204,824,342
nssv17172544	Submitted genomic		NC_000002.11:g.(?_ 204731519)_(204824 342_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	204,731,519	204,824,342

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213051	GRCh37: NC_000002.11:g.(?_204731519)_(204824342_?)del	deletion	germline	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; Autoimmune lymphoproliferative syndrome type V; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001031085.1, VCV000830454.2
nssv17172544	GRCh37: NC_000002.11:g.(?_204731519)_(204824342_?)del	deletion	germline	Common variable immunodeficiency; Common variable immunodeficiency 1; IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1	Pathogenic	ClinVar	RCV001381471.1, VCV000830454.2

No genotype data were submitted for this variant

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