A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032599



Internal ID18775133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56997641..57607573hg38UCSC Ensembl
Innerchr7:57065348..57667279hg19UCSC Ensembl
Innerchr7:57069290..57671221hg18UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38609933
hg19601932
hg18601932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6368n100
Supporting Variantsnssv3661484
Samples
Known GenesGUSBP10, MIR3147, ZNF479, ZNF716
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032599
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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