A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997312



Internal ID18810162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107656656..107750003hg38UCSC Ensembl
Innerchr1:108199278..108292625hg19UCSC Ensembl
Innerchr1:108000801..108094148hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3893348
hg1993348
hg1893348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3701151
Samples
Known GenesVAV3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997312
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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