A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999761



Internal ID19159297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117491212..117639662hg38UCSC Ensembl
Innerchr2:118248788..118397238hg19UCSC Ensembl
Innerchr2:117965258..118113708hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38148451
hg19148451
hg18148451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4060n100
Supporting Variantsnssv3729216, nssv3580685
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999761
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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