Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7097266

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:1,812,191

Description:NC_000005.9:g.(?_167849013)_(169661202_?)del AND DOCK2 deficiency

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: 3954 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):168,422,008-170,234,198

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097266	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	168,422,008	170,234,198
nsv7097266	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	167,849,013	169,661,202

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789959	deletion	Multiple	Multiple	DOCK2 deficiency; IMMUNODEFICIENCY 40; IMD40; Immunodeficiency 40	Pathogenic	ClinVar	RCV003113614.2, VCV002425244.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789959	Remapped	Perfect	NC_000005.10:g.(?_ 168422008)_(170234 198_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	168,422,008	170,234,198
nssv18789959	Submitted genomic		NC_000005.9:g.(?_1 67849013)_(1696612 02_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	167,849,013	169,661,202

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
nssv18789959	GRCh37: NC_000005.9:g.(?_167849013)_(169661202_?)del	deletion	germline	DOCK2 deficiency; IMMUNODEFICIENCY 40; IMD40; Immunodeficiency 40	Pathogenic	ClinVar	RCV003113614.2, VCV002425244.2

No genotype data were submitted for this variant

You are here: NCBI