A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027500



Internal ID19116719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3910322..3946771hg38UCSC Ensembl
Innerchr7:3949954..3986403hg19UCSC Ensembl
Innerchr7:3916480..3952929hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3836450
hg1936450
hg1836450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6229n100
Supporting Variantsnssv3655014
Samples
Known GenesSDK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027500
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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