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

dbVar

Database of genomic structural variation

nsv4578696

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:14,742,740

Description:GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 AND Intellectual disability
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: 33759 SVs from 127 studies. See in: genome view

Submitted genomic58,780,641-73,523,380

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
nsv4578696	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	58,780,641	58,785,203	73,519,962	73,523,380
nsv4578696	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	58,076,468	58,076,468	72,819,205	72,819,205

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091809	copy number loss	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	Likely pathogenic	ClinVar	RCV000984869.2, VCV000800723.1	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
nssv16091809	Submitted genomic		NC_000005.10:g.(58 780641_58785203)_( 73519962_73523380) del	GRCh38 (hg38)		NC_000005.10	Chr5	58,780,641	58,785,203	73,519,962	73,523,380
nssv16091809	Remapped	Perfect	NC_000005.9:g.(580 76468_58076468)_(7 2819205_72819205)d el	GRCh37.p13	First Pass	NC_000005.9	Chr5	58,076,468	58,076,468	72,819,205	72,819,205

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
nssv16091809	GRCh38: NC_000005.10:g.(58780641_58785203)_(73519962_73523380)del	copy number loss	de novo	Intellectual Disability; Intellectual disability; Intellectual disability	Likely pathogenic	ClinVar	RCV000984869.2, VCV000800723.1	1

No genotype data were submitted for this variant

You are here: NCBI