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dbVar

Database of genomic structural variation

nsv4681433

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:513,016

Description:NC_000002.12:g.(?_203444868)_(203957883_?)del AND Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

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: 1190 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):203,444,868-203,957,883

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681433	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	203,444,868	203,957,883
nsv4681433	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	204,309,591	204,822,606

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212844	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	RCV001033864.1, VCV000833421.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212844	Remapped	Perfect	NC_000002.12:g.(?_ 203444868)_(203957 883_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	203,444,868	203,957,883
nssv16212844	Submitted genomic		NC_000002.11:g.(?_ 204309591)_(204822 606_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	204,309,591	204,822,606

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
nssv16212844	GRCh37: NC_000002.11:g.(?_204309591)_(204822606_?)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	RCV001033864.1, VCV000833421.1

No genotype data were submitted for this variant

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