A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981948



Internal ID19208494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140176300..140177400hg38UCSC Ensembl
Outerchr7:139876100..139877200hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119142
Supporting Variants
SamplesKWS1
Known GenesJHDM1D-AS1, KDM7A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981948
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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