A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137258



Internal ID19282161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75683865..75683924hg38UCSC Ensembl
Outerchr7:75313183..75313242hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3596n106
Supporting Variantsnssv3975948, nssv3973236
SamplesKWS2, KWS1
Known GenesHIP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137258
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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