A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981932



Internal ID19203591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74964727..74971302hg38UCSC Ensembl
Outerchr7:74861000..74867600hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386576
hg196601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119128
Supporting Variants
SamplesKWS1
Known GenesGATSL1, GATSL2, GTF2IP1, PMS2P5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981932
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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