A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560620



Internal ID16001343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126744960..127782569hg38UCSC Ensembl
Innerchr12:127229506..128267114hg19UCSC Ensembl
Innerchr12:125795459..126833067hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381037610
hg191037609
hg181037609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv804200
Samples
Known GenesLINC00943, LINC00944, LOC101927592, LOC440117
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560620
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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