A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606714



Internal ID16394123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:42081954..42112000hg38UCSC Ensembl
Innerchr7:42121553..42151599hg19UCSC Ensembl
Innerchr7:42088078..42118124hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3830047
hg1930047
hg1830047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155848
Samples1798860010_A
Known GenesGLI3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606714
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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