A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119925



Internal ID18905436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:739873..764441hg38UCSC Ensembl
Outerchr12:849039..873607hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3824569
hg1924569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982918
SamplesKWS1
Known GenesWNK1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119925
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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