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dbVar

Database of genomic structural variation

nsv5381774

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:13,398,486

Description:GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) 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: 33472 SVs from 128 studies. See in: genome view

Remapped(Score: Perfect):115,912,482-129,310,967

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381774	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	115,912,482	129,310,967
nsv5381774	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	116,833,638	130,232,122

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867390	copy number loss	Multiple	Multiple	Atypical behavior; Behavioral abnormality; Delayed speech and language development; Delayed speech and language development	Pathogenic	ClinVar	RCV001352657.1, VCV001047888.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867390	Remapped	Perfect	NC_000004.12:g.(?_ 115912482)_(129310 967_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	115,912,482	129,310,967
nssv16867390	Submitted genomic		NC_000004.11:g.(?_ 116833638)_(130232 122_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	116,833,638	130,232,122

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
nssv16867390	GRCh37: NC_000004.11:g.(?_116833638)_(130232122_?)del	copy number loss	de novo	Atypical behavior; Behavioral abnormality; Delayed speech and language development; Delayed speech and language development	Pathogenic	ClinVar	RCV001352657.1, VCV001047888.1

No genotype data were submitted for this variant

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