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dbVar

Database of genomic structural variation

nsv5381779

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:2,985,845

Description:GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005) AND multiple conditions

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: 7219 SVs from 93 studies. See in: genome view

Remapped(Score: Good):154,987,129-157,972,973

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381779	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	154,987,129	157,972,973
nsv5381779	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	155,308,263	158,394,005

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867383	copy number loss	Multiple	Multiple	Agenesis of corpus callosum; CORPUS CALLOSUM, AGENESIS OF; Cleft lip; Cleft lip; Corpus callosum, agenesis of; Ectopic scrotum; Ectopic scrotum; Isolated corpus callosum agenesis; Neurodevelopmental delay; Neurodevelopmental delay	Pathogenic	ClinVar	RCV001352651.1, VCV001047882.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867383	Remapped	Good	NC_000006.12:g.(?_ 154987129)_(157972 973_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	154,987,129	157,972,973
nssv16867383	Submitted genomic		NC_000006.11:g.(?_ 155308263)_(158394 005_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	155,308,263	158,394,005

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
nssv16867383	GRCh37: NC_000006.11:g.(?_155308263)_(158394005_?)del	copy number loss	de novo	Agenesis of corpus callosum; CORPUS CALLOSUM, AGENESIS OF; Cleft lip; Cleft lip; Corpus callosum, agenesis of; Ectopic scrotum; Ectopic scrotum; Isolated corpus callosum agenesis; Neurodevelopmental delay; Neurodevelopmental delay	Pathogenic	ClinVar	RCV001352651.1, VCV001047882.1

No genotype data were submitted for this variant

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