A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611607



Internal ID16052330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:81405621..81768032hg38UCSC Ensembl
Innerchr8:82317856..82680267hg19UCSC Ensembl
Innerchr8:82480411..82842822hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38362412
hg19362412
hg18362412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156617
Samples1798860292_A
Known GenesCHMP4C, FABP12, FABP4, FABP9, IMPA1, PMP2, SLC10A5, ZFAND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611607
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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