A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602004



Internal ID16042727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31984717..31990466hg38UCSC Ensembl
Innerchr6:31952494..31958243hg19UCSC Ensembl
Innerchr6:32060473..32066222hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg385750
hg195750
hg185750
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1053638, nssv1053635, nssv1053636, nssv1053637
Samples
Known GenesC4A, C4B, C4B_2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602004
Frequency
Sample Size17421
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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