A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998125



Internal ID19157662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87146758..87752799hg38UCSC Ensembl
Innerchr2:87373881..88052318hg19UCSC Ensembl
Innerchr2:87227392..87833433hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38606042
hg19678438
hg18606042
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3901n100
Supporting Variantsnssv3582332, nssv3728765, nssv3582331, nssv3728766, nssv3582328, nssv3582327, nssv3582330, nssv3582329, nssv3582326
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998125
Frequency
Sample Size11257
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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