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dbVar

Database of genomic structural variation

nsv3911622

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:5,184,409

Description:NCBI36/hg18 6q14.1-14.3(chr6:79678455-84862865)x1 AND See cases

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: 12030 SVs from 113 studies. See in: genome view

Remapped(Score: Perfect):78,912,019-84,096,427

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3911622	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	78,912,019	84,096,427
nsv3911622	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	79,621,736	84,806,146
nsv3911622	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	79,678,455	84,862,865

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142370	copy number loss	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV000511266.2, VCV000443701.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142370	Remapped	Perfect	NC_000006.12:g.(?_ 78912019)_(8409642 7_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,912,019	84,096,427
nssv15142370	Remapped	Perfect	NC_000006.11:g.(?_ 79621736)_(8480614 6_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	79,621,736	84,806,146
nssv15142370	Submitted genomic		NC_000006.10:g.(?_ 79678455)_(8486286 5_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	79,678,455	84,862,865

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	Copy number
nssv15142370	NCBI36: NC_000006.10:g.(?_79678455)_(84862865_?)del	copy number loss	de novo	See cases	Likely pathogenic	ClinVar	RCV000511266.2, VCV000443701.2	1

No genotype data were submitted for this variant

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