A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603102



Internal ID16043825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51804684..51805279hg38UCSC Ensembl
Innerchr6:51669482..51670077hg19UCSC Ensembl
Innerchr6:51777441..51778036hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38596
hg19596
hg18596
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1059018, nssv1059017
Samples
Known GenesPKHD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603102
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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