A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006161



Internal ID18748692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232346988..232444356hg38UCSC Ensembl
Innerchr2:233211698..233309066hg19UCSC Ensembl
Innerchr2:232919942..233017310hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3897369
hg1997369
hg1897369
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4183n100
Supporting Variantsnssv3586884, nssv3586880, nssv3586885, nssv3586883, nssv3586882, nssv3586886, nssv3586881, nssv3586879
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006161
Frequency
Sample Size29084
Observed Gain4
Observed Loss4
Observed Complex0
Frequencyn/a


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