A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517371



Internal ID15444664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128832927..128933913hg38UCSC Ensembl
Innerchr7:128472981..128573967hg19UCSC Ensembl
Innerchr7:128260217..128361203hg18UCSC Ensembl
Innerchr7:128066932..128167918hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38100987
hg19100987
hg18100987
hg17100987
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667300, nssv666769, nssv669611, nssv672775, nssv682144, nssv668743, nssv701787, nssv690526, nssv705907, nssv704588, nssv671598, nssv663013, nssv688563, nssv679787, nssv674858, nssv685654, nssv651834, nssv663684, nssv692978
Samples
Known GenesATP6V1F, FLNC, KCP, LOC100130705
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517371
Frequency
Sample Size2026
Observed Gain2
Observed Loss17
Observed Complex0
Frequencyn/a


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