A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6601439



Internal ID20974510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100412401..100918900hg38UCSC Ensembl
chr7:100010024..100516520hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38506500
hg19506497
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7026n223
Supporting Variantsnssv18227778
Samples
Known GenesACHE, ACTL6B, AGFG2, C7orf61, EPHB4, EPO, FBXO24, GIGYF1, GNB2, LRCH4, MEPCE, MIR6875, MOSPD3, NYAP1, PCOLCE, PCOLCE-AS1, POP7, PPP1R35, SAP25, SLC12A9, SRRT, TFR2, TRIP6, TSC22D4, UFSP1, ZAN, ZCWPW1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6601439
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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