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

dbVar

Database of genomic structural variation

nsv4684026

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:1,268,262

Description:Single allele 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: 3480 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):93,397,953-94,666,214

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
nsv4684026	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	93,397,953	93,464,673	94,558,126	94,666,214
nsv4684026	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	96,160,235	96,226,955	97,320,408	97,428,496

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16215101	duplication	Multiple	Multiple	Delayed fine motor development; Delayed fine motor development; Delayed gross motor development; Delayed gross motor development; Expressive language delay; Expressive language delay; HERNIA, HIATUS; Hiatal hernia; Hiatus hernia; Microcephaly; Microcephaly; Mild short stature; Mild short stature	Likely pathogenic	ClinVar	RCV001095544.1, VCV000873324.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16215101	Remapped	Perfect	NC_000009.12:g.(93 397953_93464673)_( 94558126_94666214) dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	93,397,953	93,464,673	94,558,126	94,666,214
nssv16215101	Submitted genomic		NC_000009.11:g.(96 160235_96226955)_( 97320408_97428496) dup	GRCh37 (hg19)		NC_000009.11	Chr9	96,160,235	96,226,955	97,320,408	97,428,496

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
nssv16215101	GRCh37: NC_000009.11:g.(96160235_96226955)_(97320408_97428496)dup	duplication	maternal	Delayed fine motor development; Delayed fine motor development; Delayed gross motor development; Delayed gross motor development; Expressive language delay; Expressive language delay; HERNIA, HIATUS; Hiatal hernia; Hiatus hernia; Microcephaly; Microcephaly; Mild short stature; Mild short stature	Likely pathogenic	ClinVar	RCV001095544.1, VCV000873324.1	3

No genotype data were submitted for this variant

You are here: NCBI