A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998519



Internal ID16944785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:73015872..73175260hg38UCSC Ensembl
Outerchr7:72486401..72589300hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38159389
hg19102900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950547
Supporting Variants
SamplesBILGI_BIOE
Known GenesGTF2IP1, LOC100093631, PMS2L2, PMS2P5, SPDYE8P
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998519
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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