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dbVar

Database of genomic structural variation

nsv4685991

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:1,390,283

Description:GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1 AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021

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: 3238 SVs from 93 studies. See in: genome view

Remapped(Score: Perfect):96,282,226-97,672,508

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv4685991	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	96,282,226	96,302,255	97,625,085	97,672,508
nsv4685991	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	95,911,538	95,931,567	97,254,397	97,301,820

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16216868	copy number loss	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability; Microcephaly; Microcephaly	Likely pathogenic	ClinVar	RCV001251054.3, VCV000974791.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16216868	Remapped	Perfect	NC_000007.14:g.(96 282226_96302255)_( 97625085_97672508) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	96,282,226	96,302,255	97,625,085	97,672,508
nssv16216868	Submitted genomic		NC_000007.13:g.(95 911538_95931567)_( 97254397_97301820) del	GRCh37 (hg19)		NC_000007.13	Chr7	95,911,538	95,931,567	97,254,397	97,301,820

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	Copy number
nssv16216868	GRCh37: NC_000007.13:g.(95911538_95931567)_(97254397_97301820)del	copy number loss	de novo	Intellectual Disability; Intellectual disability; Intellectual disability; Microcephaly; Microcephaly	Likely pathogenic	ClinVar	RCV001251054.3, VCV000974791.2	1

No genotype data were submitted for this variant

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