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dbVar

Database of genomic structural variation

nsv5381776

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:14,724,928

Description:GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) AND Autism with high cognitive abilities

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: 44389 SVs from 135 studies. See in: genome view

Remapped(Score: Perfect):156,850,200-171,575,127

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381776	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	156,850,200	171,575,127
nsv5381776	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	157,771,352	172,496,278

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867396	copy number loss	Multiple	Multiple	Autism with high cognitive abilities; Autism with high cognitive abilities	Pathogenic	ClinVar	RCV001352663.1, VCV001047894.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867396	Remapped	Perfect	NC_000004.12:g.(?_ 156850200)_(171575 127_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	156,850,200	171,575,127
nssv16867396	Submitted genomic		NC_000004.11:g.(?_ 157771352)_(172496 278_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	157,771,352	172,496,278

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
nssv16867396	GRCh37: NC_000004.11:g.(?_157771352)_(172496278_?)del	copy number loss	de novo	Autism with high cognitive abilities; Autism with high cognitive abilities	Pathogenic	ClinVar	RCV001352663.1, VCV001047894.1

No genotype data were submitted for this variant

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