A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001727



Internal ID19090944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87228582..87725136hg38UCSC Ensembl
Innerchr2:87455705..88024655hg19UCSC Ensembl
Innerchr2:87309216..87805770hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38496555
hg19568951
hg18496555
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3892n100
Supporting Variantsnssv3582378, nssv3582377
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001727
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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