A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525048



Internal ID15452341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41370910..41379607hg38UCSC Ensembl
Innerchr17:39527162..39535859hg19UCSC Ensembl
Innerchr17:36780688..36789385hg18UCSC Ensembl
Innerchr17:36780688..36789385hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg388698
hg198698
hg188698
hg178698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701093
Samples
Known GenesKRT34
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525048
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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