A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973



Internal ID15204150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141688483..141705529hg38UCSC Ensembl
Outerchr7:141388283..141405329hg19UCSC Ensembl
Outerchr7:141034752..141051798hg18UCSC Ensembl
Outerchr7:140841467..140858513hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg387294
hg197294
hg187294
hg177294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687
SamplesNA19240
Known GenesKIAA1147, WEE2-AS1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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