A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137255



Internal ID18922238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74458877..74458937hg38UCSC Ensembl
Outerchr7:73873207..73873267hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958300, nssv3975538
SamplesKWS1, KWS2
Known GenesGTF2IRD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137255
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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