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dbVar

Database of genomic structural variation

nsv4685668

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:4,590,222

Description:GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149) 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: 10373 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):159,219,418-163,809,639

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4685668	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	159,219,418	163,809,639
nsv4685668	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	160,075,929	164,666,149

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216575	copy number loss	Multiple	Multiple	Autistic behavior; Autistic behavior; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV001200909.1, VCV000932937.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16216575	Remapped	Perfect	NC_000002.12:g.(?_ 159219418)_(163809 639_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	159,219,418	163,809,639
nssv16216575	Submitted genomic		NC_000002.11:g.(?_ 160075929)_(164666 149_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	160,075,929	164,666,149

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
nssv16216575	GRCh37: NC_000002.11:g.(?_160075929)_(164666149_?)del	copy number loss	de novo	Autistic behavior; Autistic behavior; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV001200909.1, VCV000932937.1

No genotype data were submitted for this variant

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