A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701831



Internal ID15438483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54537829..54537922hg38UCSC Ensembl
Innerchr12:54931613..54931706hg19UCSC Ensembl
Innerchr12:53217880..53217973hg18UCSC Ensembl
Innerchr12:53217880..53217973hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3894
hg1994
hg1894
hg1794
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525674
Supporting Variants
Samples
Known GenesNCKAP1L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701831
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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