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dbVar

Database of genomic structural variation

nsv4685660

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:1,617,136

Description:GRCh37/hg19 2q24.2(chr2:161561653-163178787) 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: 3374 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):160,705,142-162,322,277

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4685660	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	160,705,142	162,322,277
nsv4685660	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	161,561,653	163,178,787

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216574	copy number loss	Multiple	Multiple	Autistic behavior; Autistic behavior; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV001200908.1, VCV000932936.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16216574	Remapped	Perfect	NC_000002.12:g.(?_ 160705142)_(162322 277_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	160,705,142	162,322,277
nssv16216574	Submitted genomic		NC_000002.11:g.(?_ 161561653)_(163178 787_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	161,561,653	163,178,787

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
nssv16216574	GRCh37: NC_000002.11:g.(?_161561653)_(163178787_?)del	copy number loss	de novo	Autistic behavior; Autistic behavior; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV001200908.1, VCV000932936.1

No genotype data were submitted for this variant

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