A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143711



Internal ID18939386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120640597..120641197hg38UCSC Ensembl
Outerchr12:121078400..121079000hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv880n106
Supporting Variantsnssv3994402
SamplesKWS1
Known GenesCABP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143711
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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