A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703131



Internal ID15439783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205745264..205750342hg38UCSC Ensembl
Innerchr2:206609988..206615066hg19UCSC Ensembl
Innerchr2:206318233..206323311hg18UCSC Ensembl
Innerchr2:206435494..206440572hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385079
hg195079
hg185079
hg175079
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526779
Supporting Variants
Samples
Known GenesNRP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703131
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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