A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688187



Internal ID15078153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10073260..10512523hg38UCSC Ensembl
Innerchr17:9976577..10415840hg19UCSC Ensembl
Innerchr17:9917302..10356565hg18UCSC Ensembl
Innerchr17:9917302..10356565hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38439264
hg19439264
hg18439264
hg17439264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520771
Supporting Variants
Samples
Known GenesGAS7, MYH1, MYH13, MYH4, MYH8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688187
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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