A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520771



Internal ID15448064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10073260..10527958hg38UCSC Ensembl
Innerchr17:9976577..10431275hg19UCSC Ensembl
Innerchr17:9917302..10372000hg18UCSC Ensembl
Innerchr17:9917302..10372000hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38454699
hg19454699
hg18454699
hg17454699
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675196, nssv704582, nssv678986, nssv698606, nssv695051, nssv699406, nssv686382, nssv695877, nssv703147, nssv688187, nssv681464
Samples
Known GenesGAS7, MYH1, MYH13, MYH2, MYH4, MYH8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520771
Frequency
Sample Size2026
Observed Gain5
Observed Loss6
Observed Complex0
Frequencyn/a


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