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dbVar

Database of genomic structural variation

nsv6289880

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:3,678,175

Description:
NC_000006.11:g.28005012_31683185del AND Megacolon

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: 17555 SVs from 130 studies. See in: genome view

Remapped(Score: Perfect):28,037,234-31,715,408

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6289880	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	28,037,234	31,715,408
nsv6289880	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	28,005,012	31,683,185

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17955655	deletion	Multiple	Multiple	Aganglionic megacolon	Likely pathogenic	ClinVar	RCV001290055.1, VCV000974733.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955655	Remapped	Perfect	NC_000006.12:g.280 37234_31715408del	GRCh38.p12	First Pass	NC_000006.12	Chr6	28,037,234	31,715,408
nssv17955655	Submitted genomic		NC_000006.11:g.280 05012_31683185del	GRCh37 (hg19)		NC_000006.11	Chr6	28,005,012	31,683,185

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
nssv17955655	GRCh37: NC_000006.11:g.28005012_31683185del	deletion	de novo	Aganglionic megacolon	Likely pathogenic	ClinVar	RCV001290055.1, VCV000974733.1

No genotype data were submitted for this variant

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