A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv676989



Internal ID15066955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110114088..110200752hg38UCSC Ensembl
Innerchr2:110871665..110958329hg19UCSC Ensembl
Innerchr2:110228954..110315618hg18UCSC Ensembl
Innerchr2:110229040..110315704hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3886665
hg1986665
hg1886665
hg1786665
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515996
Supporting Variants
Samples
Known GenesMALL, NPHP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv676989
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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