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dbVar

Database of genomic structural variation

nsv5673573

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:9,186

Description:
See descriptions for individual calls in download files
Publication(s):Cristofoli et al. 2020

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: 117 SVs from 25 studies. See in: genome view

Submitted genomic126,814,259-126,823,444

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv5673573	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000005.10	Chr5	126,814,259	126,823,444
nsv5673573	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000005.9	Chr5	126,149,951	126,159,136

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216910	deletion	Multiple	Multiple	Syndrome with microcephaly as major feature	Pathogenic	ClinVar	RCV001254644.1, VCV000915458.2
nssv18326409	deletion	Multiple	Multiple	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26; Microcephaly 26, primary, autosomal dominant	Pathogenic	ClinVar	RCV002287475.1, VCV000915458.2

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv16216910	Submitted genomic	NC_000005.10:g.126 814259_126823444de l	GRCh38 (hg38)	NC_000005.10	Chr5	126,814,259	126,823,444
nssv18326409	Submitted genomic	NC_000005.10:g.126 814259_126823444de l	GRCh38 (hg38)	NC_000005.10	Chr5	126,814,259	126,823,444
nssv16216910	Submitted genomic	NC_000005.9:g.1261 49951_126159136del	GRCh37 (hg19)	NC_000005.9	Chr5	126,149,951	126,159,136
nssv18326409	Submitted genomic	NC_000005.9:g.1261 49951_126159136del	GRCh37 (hg19)	NC_000005.9	Chr5	126,149,951	126,159,136

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
nssv16216910	GRCh37: NC_000005.9:g.126149951_126159136del, GRCh38: NC_000005.10:g.126814259_126823444del	deletion	maternal	Syndrome with microcephaly as major feature	Pathogenic	ClinVar	RCV001254644.1, VCV000915458.2
nssv18326409	GRCh37: NC_000005.9:g.126149951_126159136del, GRCh38: NC_000005.10:g.126814259_126823444del	deletion	germline	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26; Microcephaly 26, primary, autosomal dominant	Pathogenic	ClinVar	RCV002287475.1, VCV000915458.2

No genotype data were submitted for this variant

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