Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6634697

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:delins
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:12,719

Description:NC_000010.11:g.93695674_93708392delinsTTAGTACA
C AND Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
Publication(s):Banka et al. 2022

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: 144 SVs from 31 studies. See in: genome view

Submitted genomic93,695,674-93,708,392

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6634697	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	93,695,674	93,708,392
nsv6634697	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	95,455,431	95,468,149

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326573	delins	Multiple	Multiple	NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES; NEDGFC; Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	Pathogenic	ClinVar	RCV002305686.1, VCV001722517.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18326573	Submitted genomic		NC_000010.11:g.936 95674_93708392deli ns?	GRCh38 (hg38)		NC_000010.11	Chr10	93,695,674	93,708,392
nssv18326573	Remapped	Perfect	NC_000010.10:g.954 55431_95468149deli ns?	GRCh37.p13	First Pass	NC_000010.10	Chr10	95,455,431	95,468,149

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
nssv18326573	GRCh38: NC_000010.11:g.93695674_93708392delins?	delins	germline	NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES; NEDGFC; Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	Pathogenic	ClinVar	RCV002305686.1, VCV001722517.1

No genotype data were submitted for this variant

You are here: NCBI