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dbVar

Database of genomic structural variation

nsv6311365

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,880,717

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: 7792 SVs from 113 studies. See in: genome view

Remapped(Score: Perfect):201,078,883-203,959,599

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311365	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	201,078,883	203,959,599
nsv6311365	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	201,943,606	204,824,322

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971077	deletion	Multiple	Multiple	Autoimmune lymphoproliferative syndrome with recurrent viral infections; CASPASE 8 DEFICIENCY; Caspase-8 deficiency	Pathogenic	ClinVar	RCV001950955.3, VCV001456057.8
nssv17971078	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	RCV001950956.5, VCV001456057.8
nssv18787098	deletion	Multiple	Multiple	Common variable immunodeficiency; Common variable immunodeficiency 1; IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1	Pathogenic	ClinVar	RCV003120780.2, VCV001456057.8
nssv18787555	duplication	Multiple	Multiple	Common variable immunodeficiency; Common variable immunodeficiency 1; IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1	Uncertain significance	ClinVar	RCV003122553.2, VCV002423982.3
nssv18791770	duplication	Multiple	Multiple	Autoimmune lymphoproliferative syndrome with recurrent viral infections; CASPASE 8 DEFICIENCY; Caspase-8 deficiency	Uncertain significance	ClinVar	RCV003105677.2, VCV002423982.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971077	Remapped	Perfect	NC_000002.12:g.(?_ 201078883)_(203959 599_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	201,078,883	203,959,599
nssv17971078	Remapped	Perfect	NC_000002.12:g.(?_ 201078883)_(203959 599_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	201,078,883	203,959,599
nssv18787098	Remapped	Perfect	NC_000002.12:g.(?_ 201078883)_(203959 599_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	201,078,883	203,959,599
nssv18787555	Remapped	Perfect	NC_000002.12:g.(?_ 201078883)_(203959 599_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	201,078,883	203,959,599
nssv18791770	Remapped	Perfect	NC_000002.12:g.(?_ 201078883)_(203959 599_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	201,078,883	203,959,599
nssv17971077	Submitted genomic		NC_000002.11:g.(?_ 201943606)_(204824 322_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	201,943,606	204,824,322
nssv17971078	Submitted genomic		NC_000002.11:g.(?_ 201943606)_(204824 322_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	201,943,606	204,824,322
nssv18787098	Submitted genomic		NC_000002.11:g.(?_ 201943606)_(204824 322_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	201,943,606	204,824,322
nssv18787555	Submitted genomic		NC_000002.11:g.(?_ 201943606)_(204824 322_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	201,943,606	204,824,322
nssv18791770	Submitted genomic		NC_000002.11:g.(?_ 201943606)_(204824 322_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	201,943,606	204,824,322

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
nssv17971077	GRCh37: NC_000002.11:g.(?_201943606)_(204824322_?)del	deletion	germline	Autoimmune lymphoproliferative syndrome with recurrent viral infections; CASPASE 8 DEFICIENCY; Caspase-8 deficiency	Pathogenic	ClinVar	RCV001950955.3, VCV001456057.8
nssv17971078	GRCh37: NC_000002.11:g.(?_201943606)_(204824322_?)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	RCV001950956.5, VCV001456057.8
nssv18787098	GRCh37: NC_000002.11:g.(?_201943606)_(204824322_?)del	deletion	germline	Common variable immunodeficiency; Common variable immunodeficiency 1; IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1	Pathogenic	ClinVar	RCV003120780.2, VCV001456057.8
nssv18787555	GRCh37: NC_000002.11:g.(?_201943606)_(204824322_?)dup	duplication	germline	Common variable immunodeficiency; Common variable immunodeficiency 1; IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1	Uncertain significance	ClinVar	RCV003122553.2, VCV002423982.3
nssv18791770	GRCh37: NC_000002.11:g.(?_201943606)_(204824322_?)dup	duplication	germline	Autoimmune lymphoproliferative syndrome with recurrent viral infections; CASPASE 8 DEFICIENCY; Caspase-8 deficiency	Uncertain significance	ClinVar	RCV003105677.2, VCV002423982.3

No genotype data were submitted for this variant

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