A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654523



Internal ID15391175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28150685..28152905hg38UCSC Ensembl
Innerchr2:28373552..28375772hg19UCSC Ensembl
Innerchr2:28227056..28229276hg18UCSC Ensembl
Innerchr2:28285203..28287423hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg382221
hg192221
hg182221
hg172221
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516533
Supporting Variants
Samples
Known GenesBRE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654523
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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