A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700683



Internal ID15090649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96786754..96793809hg38UCSC Ensembl
Innerchr5:96122458..96129512hg19UCSC Ensembl
Innerchr5:96148214..96155268hg18UCSC Ensembl
Innerchr5:96148214..96155268hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg387056
hg197055
hg187055
hg177055
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516293
Supporting Variants
Samples
Known GenesERAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700683
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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